PLA2G7 (phospholipase A2 group VII) - Rat Genome Database

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Gene: PLA2G7 (phospholipase A2 group VII) Homo sapiens
Analyze
Symbol: PLA2G7
Name: phospholipase A2 group VII
RGD ID: 1321810
HGNC Page HGNC:9040
Description: Enables 1-alkyl-2-acetylglycerophosphocholine esterase activity; calcium-independent phospholipase A2 activity; and phospholipid binding activity. Involved in several processes, including glycerophospholipid catabolic process; plasma lipoprotein particle remodeling; and positive regulation of monocyte chemotaxis. Part of high-density lipoprotein particle and low-density lipoprotein particle. Implicated in several diseases, including artery disease (multiple); glomerulonephritis (multiple); hemolytic-uremic syndrome; proteinuria (multiple); and type 2 diabetes mellitus. Biomarker of several diseases, including artery disease (multiple); autoimmune disease (multiple); end stage renal disease; metabolic dysfunction-associated steatotic liver disease; and obstructive sleep apnea.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 1-alkyl-2-acetylglycerophosphocholine esterase; 2-acetyl-1-alkylglycerophosphocholine esterase; group-VIIA phospholipase A2; gVIIA-PLA2; LDL-associated phospholipase A2; LDL-PLA(2); LDL-PLA2; lipoprotein-associated phospholipase A2; LP-PLA2; PAF 2-acylhydrolase; PAF acetylhydrolase; PAFAD; PAFAH; phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma); platelet-activating factor acetylhydrolase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38646,704,201 - 46,735,721 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl646,704,201 - 46,735,693 (-)EnsemblGRCh38hg38GRCh38
GRCh37646,671,938 - 46,703,458 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36646,780,237 - 46,811,061 (-)NCBINCBI36Build 36hg18NCBI36
Build 34646,780,236 - 46,811,055NCBI
Celera648,224,575 - 48,255,899 (-)NCBICelera
Cytogenetic Map6p12.3NCBI
HuRef646,395,325 - 46,426,641 (-)NCBIHuRef
CHM1_1646,675,466 - 46,706,812 (-)NCBICHM1_1
T2T-CHM13v2.0646,541,848 - 46,573,478 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetyl-1-alkyl-sn-glycero-3-phosphocholine  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
amiodarone  (ISO)
amphetamine  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzene  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon monoxide  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
choline  (ISO)
cobalt atom  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (ISO)
Dibutyl phosphate  (EXP)
diclofenac  (ISO)
dieldrin  (ISO)
dimethylarsinic acid  (ISO)
dinitrogen oxide  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxycycline  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ezetimibe  (EXP)
fenofibrate  (EXP)
ferric oxide  (ISO)
folic acid  (ISO)
fonofos  (EXP)
furan  (ISO)
genistein  (ISO)
hydrogen peroxide  (ISO)
indole-3-methanol  (ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
ketoconazole  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (EXP,ISO)
menadione  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP,ISO)
nicotinic acid  (EXP)
nitrogen dioxide  (EXP)
orlistat  (EXP)
ozone  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (EXP)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
quercetin  (ISO)
raloxifene  (EXP)
rotenone  (ISO)
SB 203580  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
simvastatin  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (EXP)
streptozocin  (ISO)
sulfur dioxide  (EXP)
tamoxifen  (EXP,ISO)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Tungsten carbide  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Urine of patients with nephrotic syndrome contains the plasma type of PAF-acetylhydrolase associated with lipoproteins. Balafa OC, etal., Nephron Physiol. 2004;97(3):p45-52.
2. The association among lipoprotein-associated phospholipase A2 levels, total antioxidant capacity and arousal in male patients with OSA. Bekci TT, etal., Int J Med Sci. 2011;8(5):369-76. Epub 2011 Jun 10.
3. Phospholipase A2 in patients with noncardioembolic ischemic stroke and severe inflammatory reaction. Cojocaru IM, etal., Rom J Intern Med. 2009;47(1):61-5.
4. Association of serum lipoprotein-associated phospholipase A2 level with nonalcoholic fatty liver disease. Colak Y, etal., Metab Syndr Relat Disord. 2012 Apr;10(2):103-9. Epub 2011 Nov 23.
5. Decreased circulating lipoprotein-associated phospholipase A2 levels are associated with coronary plaque regression in patients with acute coronary syndrome. Dohi T, etal., Atherosclerosis. 2011 Dec;219(2):907-12. Epub 2011 Sep 17.
6. High-sensitivity C-reactive protein and lipoprotein-associated phospholipase A2 stability before and after stroke and myocardial infarction. Elkind MS, etal., Stroke. 2009 Oct;40(10):3233-7. Epub 2009 Jul 30.
7. Translational studies of lipoprotein-associated phospholipase A in inflammation and atherosclerosis. Ferguson JF, etal., J Am Coll Cardiol. 2012 Feb 21;59(8):764-72.
8. The metabolic cascade leading to eicosanoid precursors--desaturases, elongases, and phospholipases A2--is altered in Zucker fatty rats. Fevre C, etal., Biochim Biophys Acta. 2011 Jun;1811(6):409-17. Epub 2010 Dec 21.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Evidence Supporting a Key Role of Lp-PLA2-Generated Lysophosphatidylcholine in Human Atherosclerotic Plaque Inflammation. Goncalves I, etal., Arterioscler Thromb Vasc Biol. 2012 Apr 12.
11. The expression and localization of plasma platelet-activating factor acetylhydrolase in endotoxemic rats. Howard KM and Olson MS, J Biol Chem. 2000 Jun 30;275(26):19891-6.
12. The inhibition of lipoprotein-associated phospholipase A2 exerts beneficial effects against atherosclerosis in LDLR-deficient mice. Hu MM, etal., Acta Pharmacol Sin. 2011 Oct;32(10):1253-8. doi: 10.1038/aps.2011.127. Epub 2011 Aug 15.
13. Platelet-activating factor levels and PAF acetylhydrolase activities in patients with primary glomerulonephritis. Iatrou C, etal., Nephron. 1996;72(4):611-6.
14. Adenovirus-mediated gene transfer and lipoprotein-mediated protein delivery of plasma PAF-AH ameliorates proteinuria in rat model of glomerulosclerosis. Iso-O N, etal., Mol Ther. 2006 Jan;13(1):118-26. Epub 2005 Oct 5.
15. The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma. Kruse S, etal., Am J Hum Genet. 2000 May;66(5):1522-30. Epub 2000 Mar 24.
16. Patients with early rheumatoid arthritis exhibit elevated autoantibody titers against mildly oxidized low-density lipoprotein and exhibit decreased activity of the lipoprotein-associated phospholipase A2. Lourida ES, etal., Arthritis Res Ther. 2007;9(1):R19.
17. Lipoprotein-associated phospholipase A2 independently predicts the angiographic diagnosis of coronary artery disease and coronary death. May HT, etal., Am Heart J. 2006 Nov;152(5):997-1003.
18. Changes in glycerophospholipid profile in experimental nephrotic syndrome. Mimura K, etal., Metabolism. 1996 Jul;45(7):822-6.
19. Lipoprotein-Associated Phospholipase A2 (Lp-PLA2) and Future Risk of Type 2 Diabetes: Results from the Cardiovascular Health Study. Nelson TL, etal., J Clin Endocrinol Metab. 2012 Mar 7.
20. Platelet-activating factor-acetylhydrolase and PAF-receptor gene haplotypes in relation to future cardiovascular event in patients with coronary artery disease. Ninio E, etal., Hum Mol Genet. 2004 Jul 1;13(13):1341-51. Epub 2004 Apr 28.
21. Lipoprotein-associated phospholipase A2 activity is associated with risk of coronary heart disease and ischemic stroke: the Rotterdam Study. Oei HH, etal., Circulation. 2005 Feb 8;111(5):570-5.
22. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
23. PAF-acetylhydrolase activity in plasma of patients with chronic kidney disease. Effect of long-term therapy with erythropoietin. Papavasiliou EC, etal., Nephrol Dial Transplant. 2006 May;21(5):1270-7. Epub 2006 Jan 18.
24. Lp-PLA2 activity and mass are associated with increased incidence of ischemic stroke: a population-based cohort study from Malmo, Sweden. Persson M, etal., Atherosclerosis. 2008 Sep;200(1):191-8. Epub 2008 Feb 21.
25. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
26. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
27. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
28. Circulating lipoprotein-associated phospholipase A2 in high-grade carotid stenosis: a new biomarker for predicting unstable plaque. Sarlon-Bartoli G, etal., Eur J Vasc Endovasc Surg. 2012 Feb;43(2):154-9. Epub 2011 Nov 9.
29. Lp-PLA2: Inflammatory Biomarker of Vascular Risk in Multiple Sclerosis. Sternberg Z, etal., J Clin Immunol. 2012 Jan 13.
30. Role of platelet-activating factor acetylhydrolase gene mutation in Japanese childhood IgA nephropathy. Tanaka R, etal., Am J Kidney Dis. 1999 Aug;34(2):289-95.
31. Association of a G994 -->T missense mutation in the plasma platelet-activating factor acetylhydrolase gene with risk of abdominal aortic aneurysm in Japanese. Unno N, etal., Ann Surg. 2002 Feb;235(2):297-302.
32. Lipoprotein-associated phospholipase A2 is associated with risk of dementia. van Oijen M, etal., Ann Neurol. 2006 Jan;59(1):139-44.
33. Lipoprotein-associated phospholipase A2 activity and risk of heart failure: The Rotterdam study. van Vark LC, etal., Eur Heart J. 2006 Oct;27(19):2346-52. Epub 2006 Sep 4.
34. Platelet-activating factor acetylhydrolase gene mutation in Japanese children with Escherichia coli O157-associated hemolytic uremic syndrome. Xu H, etal., Am J Kidney Dis. 2000 Jul;36(1):42-6.
35. Platelet-activating factor acetylhydrolase gene mutation in Japanese nephrotic children. Xu H, etal., Kidney Int. 1998 Dec;54(6):1867-71.
36. Association of plasma PAF acetylhydrolase gene polymorphism with IMT of carotid arteries in Japanese type 2 diabetic patients. Yamamoto I, etal., Diabetes Res Clin Pract. 2003 Mar;59(3):219-24.
37. Interdependent effect of angiotensin-converting enzyme and platelet-activating factor acetylhydrolase gene polymorphisms on the progression of immunoglobulin A nephropathy. Yoon HJ, etal., Clin Genet. 2002 Aug;62(2):128-34.
Additional References at PubMed
PMID:2040620   PMID:7592717   PMID:7700381   PMID:8624782   PMID:8675689   PMID:9245731   PMID:9377118   PMID:9384577   PMID:9412624   PMID:9472966   PMID:9745929   PMID:9759612  
PMID:10066756   PMID:10362256   PMID:10504265   PMID:11248283   PMID:11294621   PMID:11369691   PMID:11389474   PMID:11501940   PMID:11590221   PMID:11810302   PMID:11850055   PMID:11861667  
PMID:12068200   PMID:12428682   PMID:12466264   PMID:12477932   PMID:12548211   PMID:12649088   PMID:12782155   PMID:12801611   PMID:12821559   PMID:14671207   PMID:14749286   PMID:15081260  
PMID:15148590   PMID:15215249   PMID:15318030   PMID:15342556   PMID:15364890   PMID:15489334   PMID:15956136   PMID:16086290   PMID:16223884   PMID:16308493   PMID:16371369   PMID:16438975  
PMID:16530769   PMID:16787988   PMID:17090529   PMID:17092424   PMID:17160904   PMID:17174223   PMID:17207965   PMID:17251670   PMID:17502572   PMID:17509958   PMID:17587752   PMID:17908960  
PMID:17981297   PMID:18001304   PMID:18061193   PMID:18094516   PMID:18165686   PMID:18204052   PMID:18259035   PMID:18356547   PMID:18383322   PMID:18408575   PMID:18431085   PMID:18434304  
PMID:18587071   PMID:18660489   PMID:18779277   PMID:18784071   PMID:18789441   PMID:18832472   PMID:18930040   PMID:18983494   PMID:19034521   PMID:19069165   PMID:19135199   PMID:19247692  
PMID:19272461   PMID:19336475   PMID:19359705   PMID:19373214   PMID:19500354   PMID:19578796   PMID:19583678   PMID:19596311   PMID:19763134   PMID:19804884   PMID:19850020   PMID:19892409  
PMID:19910444   PMID:19913121   PMID:19948975   PMID:20067121   PMID:20080080   PMID:20185515   PMID:20185811   PMID:20200624   PMID:20331434   PMID:20367923   PMID:20442857   PMID:20444451  
PMID:20479152   PMID:20507838   PMID:20625038   PMID:20628086   PMID:20634581   PMID:20926117   PMID:21107710   PMID:21155029   PMID:21176638   PMID:21247435   PMID:21281786   PMID:21316774  
PMID:21432021   PMID:21476960   PMID:21490708   PMID:21553808   PMID:21606947   PMID:21616491   PMID:21620406   PMID:21708876   PMID:21714927   PMID:21834908   PMID:21873635   PMID:21880383  
PMID:21882811   PMID:21933589   PMID:21942556   PMID:22003152   PMID:22028154   PMID:22139405   PMID:22153151   PMID:22164942   PMID:22178747   PMID:22197603   PMID:22202492   PMID:22300679  
PMID:22338104   PMID:22359537   PMID:22447189   PMID:22632920   PMID:22665167   PMID:22755553   PMID:22784637   PMID:22797139   PMID:22859728   PMID:22898284   PMID:23083783   PMID:23089713  
PMID:23089916   PMID:23103135   PMID:23118302   PMID:23118945   PMID:23140470   PMID:23361301   PMID:23413990   PMID:23439604   PMID:23546765   PMID:23555769   PMID:23623642   PMID:23746626  
PMID:23747086   PMID:24008317   PMID:24089018   PMID:24092915   PMID:24161325   PMID:24162774   PMID:24358251   PMID:24393260   PMID:24397392   PMID:24416164   PMID:24463064   PMID:24492522  
PMID:24513482   PMID:24555913   PMID:24580749   PMID:24682749   PMID:24732951   PMID:24742198   PMID:24818163   PMID:24904022   PMID:24930071   PMID:25056687   PMID:25078067   PMID:25105582  
PMID:25186013   PMID:25291938   PMID:25458708   PMID:25463126   PMID:25501698   PMID:25581763   PMID:25587968   PMID:25647459   PMID:25690150   PMID:25874928   PMID:25893499   PMID:25934512  
PMID:26004387   PMID:26117401   PMID:26186194   PMID:26311748   PMID:26460076   PMID:26499399   PMID:26504820   PMID:26595893   PMID:26642708   PMID:26775119   PMID:26791069   PMID:26801405  
PMID:26828804   PMID:26848158   PMID:27097870   PMID:27206945   PMID:27301456   PMID:27392709   PMID:27450918   PMID:27461004   PMID:27487154   PMID:27614353   PMID:27641736   PMID:27710915  
PMID:27776715   PMID:27905470   PMID:27928450   PMID:27941334   PMID:27956130   PMID:27992874   PMID:28005267   PMID:28110894   PMID:28142077   PMID:28215109   PMID:28222638   PMID:28332853  
PMID:28334001   PMID:28475940   PMID:28502488   PMID:28514442   PMID:28514697   PMID:28608449   PMID:28704853   PMID:28784006   PMID:28934604   PMID:28951620   PMID:28960681   PMID:29027597  
PMID:29050675   PMID:29101839   PMID:29121808   PMID:29138849   PMID:29169030   PMID:29424477   PMID:29427237   PMID:29427679   PMID:29525223   PMID:29623345   PMID:29636060   PMID:29728838  
PMID:29737567   PMID:30094934   PMID:30168082   PMID:30289950   PMID:30850840   PMID:30904742   PMID:31103624   PMID:31115024   PMID:31236414   PMID:31489677   PMID:31630457   PMID:31713292  
PMID:31875617   PMID:32109154   PMID:32145524   PMID:32152936   PMID:32460702   PMID:32546193   PMID:32636298   PMID:32648046   PMID:32679127   PMID:32710501   PMID:33029257   PMID:33073951  
PMID:33089697   PMID:33107310   PMID:33188662   PMID:33299319   PMID:33458873   PMID:33583415   PMID:33676381   PMID:33760156   PMID:33762651   PMID:33961781   PMID:33978383   PMID:34093570  
PMID:34220834   PMID:34315293   PMID:34388201   PMID:34404374   PMID:34427055   PMID:34740601   PMID:35143297   PMID:35396721   PMID:35818585   PMID:36517761   PMID:36614323   PMID:36857476  
PMID:36946054   PMID:36975077   PMID:37270927   PMID:37566692   PMID:37747445   PMID:37761388   PMID:37933031   PMID:37975398   PMID:38113871   PMID:38216940   PMID:38287833   PMID:38677367  
PMID:38924255  


Genomics

Comparative Map Data
PLA2G7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38646,704,201 - 46,735,721 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl646,704,201 - 46,735,693 (-)EnsemblGRCh38hg38GRCh38
GRCh37646,671,938 - 46,703,458 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36646,780,237 - 46,811,061 (-)NCBINCBI36Build 36hg18NCBI36
Build 34646,780,236 - 46,811,055NCBI
Celera648,224,575 - 48,255,899 (-)NCBICelera
Cytogenetic Map6p12.3NCBI
HuRef646,395,325 - 46,426,641 (-)NCBIHuRef
CHM1_1646,675,466 - 46,706,812 (-)NCBICHM1_1
T2T-CHM13v2.0646,541,848 - 46,573,478 (-)NCBIT2T-CHM13v2.0
Pla2g7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391743,879,009 - 43,923,093 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1743,878,989 - 43,923,092 (+)EnsemblGRCm39 Ensembl
GRCm381743,567,994 - 43,612,202 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1743,568,098 - 43,612,201 (+)EnsemblGRCm38mm10GRCm38
MGSCv371743,705,400 - 43,749,150 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361743,031,500 - 43,075,242 (+)NCBIMGSCv36mm8
Celera1746,991,155 - 47,035,006 (+)NCBICelera
Cytogenetic Map17B3NCBI
cM Map1719.74NCBI
Pla2g7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8924,859,491 - 24,901,747 (-)NCBIGRCr8
mRatBN7.2917,362,214 - 17,404,476 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl917,362,225 - 17,404,476 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx925,952,093 - 25,994,494 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0931,026,641 - 31,069,054 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0929,315,869 - 29,358,274 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0919,935,754 - 19,978,013 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl919,935,768 - 19,978,013 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0918,813,216 - 18,855,030 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4913,057,988 - 13,100,289 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1913,055,311 - 13,097,611 (-)NCBI
Celera915,085,734 - 15,127,419 (-)NCBICelera
Cytogenetic Map9q13NCBI
Pla2g7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543711,534,173 - 11,555,996 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543711,534,251 - 11,577,942 (-)NCBIChiLan1.0ChiLan1.0
PLA2G7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2561,165,585 - 61,231,060 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1657,031,715 - 57,097,254 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0646,264,262 - 46,318,487 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1647,558,861 - 47,590,212 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl647,558,861 - 47,590,212 (-)Ensemblpanpan1.1panPan2
PLA2G7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11214,866,229 - 14,908,230 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1214,866,229 - 14,908,114 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1214,897,517 - 14,938,972 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01215,366,067 - 15,408,199 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1215,366,063 - 15,408,686 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11214,881,621 - 14,922,982 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01214,970,576 - 15,012,067 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01215,117,009 - 15,158,322 (-)NCBIUU_Cfam_GSD_1.0
Pla2g7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494650,314,028 - 50,350,357 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647613,609,374 - 13,649,998 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647613,609,847 - 13,646,174 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLA2G7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl741,486,598 - 41,531,345 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1741,488,152 - 41,531,383 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2748,149,037 - 48,192,545 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLA2G7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11725,538,645 - 25,571,230 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1725,538,438 - 25,574,269 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604446,721,234 - 46,754,128 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pla2g7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475413,904,797 - 13,931,670 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475413,905,084 - 13,932,366 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLA2G7
60 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005084.4(PLA2G7):c.663+1G>A single nucleotide variant Platelet-activating factor acetylhydrolase deficiency [RCV000578126]|not specified [RCV002265809] Chr6:46711495 [GRCh38]
Chr6:46679232 [GRCh37]
Chr6:6p12.3		 pathogenic|risk factor|uncertain significance
NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe) single nucleotide variant PLA2G7-related disorder [RCV003982832]|Platelet-activating factor acetylhydrolase deficiency [RCV000008376]|not provided [RCV001711067] Chr6:46709361 [GRCh38]
Chr6:46677098 [GRCh37]
Chr6:6p12.3		 pathogenic|risk factor|benign
NM_005084.4(PLA2G7):c.593T>C (p.Ile198Thr) single nucleotide variant PLA2G7-related disorder [RCV003974806]|RECLASSIFIED - POLYMORPHISM [RCV000008377] Chr6:46711566 [GRCh38]
Chr6:46679303 [GRCh37]
Chr6:6p12.3		 risk factor|benign
NM_005084.4(PLA2G7):c.1136T>C (p.Val379Ala) single nucleotide variant PLA2G7-related disorder [RCV003974807]|RECLASSIFIED - POLYMORPHISM [RCV000008378]|not provided [RCV000049574] Chr6:46705206 [GRCh38]
Chr6:46672943 [GRCh37]
Chr6:6p12.3		 risk factor|benign|not provided
NM_005084.4(PLA2G7):c.275G>A (p.Arg92His) single nucleotide variant PLA2G7-related disorder [RCV003974937]|not provided [RCV000049573] Chr6:46716485 [GRCh38]
Chr6:46716485..46716486 [GRCh38]
Chr6:46684222 [GRCh37]
Chr6:46684222..46684223 [GRCh37]
Chr6:6p12.3		 benign|not provided
GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3 copy number gain See cases [RCV000135580] Chr6:44985760..47986838 [GRCh38]
Chr6:44953497..47954574 [GRCh37]
Chr6:45061475..48062533 [NCBI36]
Chr6:6p21.1-12.3		 likely pathogenic
GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1 copy number loss See cases [RCV000138349] Chr6:45681671..54212044 [GRCh38]
Chr6:45649408..54076842 [GRCh37]
Chr6:45757386..54184801 [NCBI36]
Chr6:6p21.1-12.1		 pathogenic|uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
NM_005084.4(PLA2G7):c.870-2A>G single nucleotide variant Platelet-activating factor acetylhydrolase deficiency [RCV000490463] Chr6:46708163 [GRCh38]
Chr6:46675900 [GRCh37]
Chr6:6p12.3		 uncertain significance
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)x1 copy number loss See cases [RCV000446897] Chr6:43636308..50947320 [GRCh37]
Chr6:6p21.1-12.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_005084.4(PLA2G7):c.402G>A (p.Trp134Ter) single nucleotide variant not provided [RCV000578643] Chr6:46714528 [GRCh38]
Chr6:46682265 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.680_681dup (p.Glu228fs) duplication Platelet-activating factor acetylhydrolase deficiency [RCV000662013] Chr6:46710640..46710641 [GRCh38]
Chr6:46678377..46678378 [GRCh37]
Chr6:6p12.3		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p12.3(chr6:46621867-46675778)x3 copy number gain not provided [RCV000745685] Chr6:46621867..46675778 [GRCh37]
Chr6:6p12.3		 benign
NM_005084.4(PLA2G7):c.1284C>T (p.His428=) single nucleotide variant not provided [RCV000881377] Chr6:46704602 [GRCh38]
Chr6:46672339 [GRCh37]
Chr6:6p12.3		 likely benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_005084.4(PLA2G7):c.573G>C (p.Lys191Asn) single nucleotide variant not provided [RCV000894356] Chr6:46711586 [GRCh38]
Chr6:46679323 [GRCh37]
Chr6:6p12.3		 benign
NM_005084.4(PLA2G7):c.521T>C (p.Val174Ala) single nucleotide variant not specified [RCV004281977] Chr6:46712287 [GRCh38]
Chr6:46680024 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.696T>C (p.Ala232=) single nucleotide variant not provided [RCV000897266] Chr6:46710626 [GRCh38]
Chr6:46678363 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.245G>A (p.Arg82His) single nucleotide variant not specified [RCV004700035] Chr6:46716515 [GRCh38]
Chr6:46684252 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.1190-23_1190-20del deletion not provided [RCV001661046] Chr6:46704716..46704719 [GRCh38]
Chr6:46672453..46672456 [GRCh37]
Chr6:6p12.3		 benign
NM_005084.4(PLA2G7):c.870-3C>A single nucleotide variant not specified [RCV004783297] Chr6:46708164 [GRCh38]
Chr6:46675901 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.109+2T>C single nucleotide variant Platelet-activating factor acetylhydrolase deficiency [RCV003989405] Chr6:46722781 [GRCh38]
Chr6:46690518 [GRCh37]
Chr6:6p12.3		 pathogenic|likely pathogenic
NM_005084.4(PLA2G7):c.8del (p.Pro3fs) deletion Platelet-activating factor acetylhydrolase deficiency [RCV001294100] Chr6:46722884 [GRCh38]
Chr6:46690621 [GRCh37]
Chr6:6p12.3		 pathogenic
NM_005084.4(PLA2G7):c.193G>A (p.Val65Ile) single nucleotide variant not provided [RCV001357813] Chr6:46717013 [GRCh38]
Chr6:46684750 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.470+1G>A single nucleotide variant Platelet-activating factor acetylhydrolase deficiency [RCV001330011] Chr6:46714459 [GRCh38]
Chr6:46682196 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_005084.4(PLA2G7):c.869+15T>C single nucleotide variant not specified [RCV004800919] Chr6:46709312 [GRCh38]
Chr6:46677049 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.1226T>C (p.Ile409Thr) single nucleotide variant not specified [RCV004800816] Chr6:46704660 [GRCh38]
Chr6:46672397 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.1263C>T (p.Asn421=) single nucleotide variant not specified [RCV004800797] Chr6:46704623 [GRCh38]
Chr6:46672360 [GRCh37]
Chr6:6p12.3		 likely benign
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320) copy number loss not specified [RCV002053568] Chr6:43636308..50947320 [GRCh37]
Chr6:6p21.1-12.3		 pathogenic
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12		 likely pathogenic
NM_005084.4(PLA2G7):c.595G>A (p.Gly199Arg) single nucleotide variant not specified [RCV004145936] Chr6:46711564 [GRCh38]
Chr6:46679301 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.329T>C (p.Phe110Ser) single nucleotide variant not specified [RCV004086749] Chr6:46716431 [GRCh38]
Chr6:46684168 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.410C>T (p.Pro137Leu) single nucleotide variant not specified [RCV004205757] Chr6:46714520 [GRCh38]
Chr6:46682257 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.613T>C (p.Tyr205His) single nucleotide variant not specified [RCV004211833] Chr6:46711546 [GRCh38]
Chr6:46679283 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.434C>T (p.Pro145Leu) single nucleotide variant not specified [RCV004084683] Chr6:46714496 [GRCh38]
Chr6:46682233 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.357C>A (p.Asn119Lys) single nucleotide variant not specified [RCV004242682] Chr6:46716403 [GRCh38]
Chr6:46684140 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.1229A>G (p.Glu410Gly) single nucleotide variant not specified [RCV004181894] Chr6:46704657 [GRCh38]
Chr6:46672394 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.126A>G (p.Ile42Met) single nucleotide variant not specified [RCV004181895] Chr6:46717080 [GRCh38]
Chr6:46684817 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.433C>T (p.Pro145Ser) single nucleotide variant not specified [RCV004229173] Chr6:46714497 [GRCh38]
Chr6:46682234 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.787G>A (p.Asp263Asn) single nucleotide variant not specified [RCV004226316] Chr6:46709409 [GRCh38]
Chr6:46677146 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.797A>G (p.Lys266Arg) single nucleotide variant not specified [RCV004178937] Chr6:46709399 [GRCh38]
Chr6:46677136 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.422G>A (p.Gly141Asp) single nucleotide variant not specified [RCV004125796] Chr6:46714508 [GRCh38]
Chr6:46682245 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.4G>A (p.Val2Met) single nucleotide variant not specified [RCV004197906] Chr6:46722888 [GRCh38]
Chr6:46690625 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.686G>A (p.Cys229Tyr) single nucleotide variant not specified [RCV004101158] Chr6:46710636 [GRCh38]
Chr6:46678373 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.251A>G (p.Tyr84Cys) single nucleotide variant Platelet-activating factor acetylhydrolase deficiency [RCV003225850] Chr6:46716509 [GRCh38]
Chr6:46684246 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.875G>T (p.Gly292Val) single nucleotide variant not specified [RCV004348218] Chr6:46708156 [GRCh38]
Chr6:46675893 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.1066G>T (p.Asp356Tyr) single nucleotide variant not specified [RCV004339031] Chr6:46705276 [GRCh38]
Chr6:46673013 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.794A>G (p.Glu265Gly) single nucleotide variant not specified [RCV004359033] Chr6:46709402 [GRCh38]
Chr6:46677139 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.667C>T (p.Arg223Trp) single nucleotide variant not specified [RCV003479979] Chr6:46710655 [GRCh38]
Chr6:46678392 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.774G>A (p.Leu258=) single nucleotide variant not specified [RCV003405076] Chr6:46710548 [GRCh38]
Chr6:46678285 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.1277A>G (p.Asn426Ser) single nucleotide variant not specified [RCV003388472] Chr6:46704609 [GRCh38]
Chr6:46672346 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.664-2A>G single nucleotide variant Platelet-activating factor acetylhydrolase deficiency [RCV004799991] Chr6:46710660 [GRCh38]
Chr6:46678397 [GRCh37]
Chr6:6p12.3		 likely pathogenic
NM_005084.4(PLA2G7):c.475C>A (p.Leu159Ile) single nucleotide variant not specified [RCV004511564] Chr6:46712333 [GRCh38]
Chr6:46680070 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.677C>G (p.Ala226Gly) single nucleotide variant not specified [RCV004511568] Chr6:46710645 [GRCh38]
Chr6:46678382 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.151T>A (p.Phe51Ile) single nucleotide variant PLA2G7-related disorder [RCV003939547] Chr6:46717055 [GRCh38]
Chr6:46684792 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.1067A>G (p.Asp356Gly) single nucleotide variant not specified [RCV004511561] Chr6:46705275 [GRCh38]
Chr6:46673012 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.466T>G (p.Phe156Val) single nucleotide variant not specified [RCV004511563] Chr6:46714464 [GRCh38]
Chr6:46682201 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.777+16T>C single nucleotide variant Platelet-activating factor acetylhydrolase deficiency [RCV003991878] Chr6:46710529 [GRCh38]
Chr6:46678266 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.634G>A (p.Glu212Lys) single nucleotide variant not specified [RCV004511566] Chr6:46711525 [GRCh38]
Chr6:46679262 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.668G>A (p.Arg223Gln) single nucleotide variant not specified [RCV004511567] Chr6:46710654 [GRCh38]
Chr6:46678391 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.95A>G (p.His32Arg) single nucleotide variant not specified [RCV004511569] Chr6:46722797 [GRCh38]
Chr6:46690534 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.222C>T (p.His74=) single nucleotide variant PLA2G7-related disorder [RCV003933877] Chr6:46716984 [GRCh38]
Chr6:46684721 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.39C>T (p.Cys13=) single nucleotide variant not specified [RCV004526330] Chr6:46722853 [GRCh38]
Chr6:46690590 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.512G>A (p.Gly171Glu) single nucleotide variant not specified [RCV004511565] Chr6:46712296 [GRCh38]
Chr6:46680033 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.1041-17G>A single nucleotide variant not specified [RCV004526462] Chr6:46705318 [GRCh38]
Chr6:46673055 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.370C>T (p.Leu124Phe) single nucleotide variant not specified [RCV004511562] Chr6:46716390 [GRCh38]
Chr6:46684127 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.102A>C (p.Lys34Asn) single nucleotide variant not specified [RCV004661988] Chr6:46722790 [GRCh38]
Chr6:46690527 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.172C>T (p.Arg58Trp) single nucleotide variant not specified [RCV004690692] Chr6:46717034 [GRCh38]
Chr6:46684771 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.376+11T>C single nucleotide variant not specified [RCV004690840] Chr6:46716373 [GRCh38]
Chr6:46684110 [GRCh37]
Chr6:6p12.3		 likely benign
NM_005084.4(PLA2G7):c.235A>G (p.Thr79Ala) single nucleotide variant not specified [RCV004661987] Chr6:46716525 [GRCh38]
Chr6:46684262 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.1102A>G (p.Met368Val) single nucleotide variant not specified [RCV004651054] Chr6:46705240 [GRCh38]
Chr6:46672977 [GRCh37]
Chr6:6p12.3		 uncertain significance
NM_005084.4(PLA2G7):c.487A>C (p.Ile163Leu) single nucleotide variant not specified [RCV004651055] Chr6:46712321 [GRCh38]
Chr6:46680058 [GRCh37]
Chr6:6p12.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:733
Count of miRNA genes:389
Interacting mature miRNAs:412
Transcripts:ENST00000274793, ENST00000537365, ENST00000538237, ENST00000541026
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407020658GWAS669634_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS669634 (human)3e-19lipoprotein-associated phospholipase A(2) measurement64671434246714343Human
407051891GWAS700867_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS700867 (human)1e-10lipoprotein-associated phospholipase A(2) measurement64670728846707289Human
407051890GWAS700866_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS700866 (human)2e-23lipoprotein-associated phospholipase A(2) measurement64671648546716486Human
596956933GWAS1076452_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS1076452 (human)9e-38lipoprotein-associated phospholipase A(2) measurement64670936146709362Human
407025494GWAS674470_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS674470 (human)6e-14lipoprotein-associated phospholipase A(2) measurement64671648546716486Human
596956968GWAS1076487_Hlipoprotein-associated phospholipase A(2) measurement QTL GWAS1076487 (human)2e-36lipoprotein-associated phospholipase A(2) measurement64670936146709362Human

Markers in Region
RH70216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37646,703,404 - 46,703,558UniSTSGRCh37
Build 36646,811,363 - 46,811,517RGDNCBI36
Celera648,255,873 - 48,256,027RGD
Cytogenetic Map6p21.2-p12UniSTS
HuRef646,426,615 - 46,426,769UniSTS
GeneMap99-GB4 RH Map6179.69UniSTS
NCBI RH Map6693.7UniSTS
RH71209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37646,672,399 - 46,673,011UniSTSGRCh37
Celera648,224,907 - 48,225,519UniSTS
Cytogenetic Map6p21.2-p12UniSTS
HuRef646,395,653 - 46,396,265UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1203 2325 2539 2095 4892 1706 2215 3 610 1390 451 2239 6334 5743 15 3674 811 1690 1495 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK290381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP326231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF568110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ118422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ118423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ118424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ118425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ118435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U20157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U24577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000274793   ⟹   ENSP00000274793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl646,704,201 - 46,735,375 (-)Ensembl
Ensembl Acc Id: ENST00000537365   ⟹   ENSP00000445666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl646,704,317 - 46,735,693 (-)Ensembl
RefSeq Acc Id: NM_001168357   ⟹   NP_001161829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38646,704,201 - 46,735,721 (-)NCBI
GRCh37646,672,053 - 46,703,430 (-)NCBI
HuRef646,395,325 - 46,426,641 (-)ENTREZGENE
CHM1_1646,675,466 - 46,706,812 (-)NCBI
T2T-CHM13v2.0646,541,848 - 46,573,366 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005084   ⟹   NP_005075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38646,704,201 - 46,735,375 (-)NCBI
GRCh37646,672,053 - 46,703,430 (-)ENTREZGENE
GRCh37646,672,053 - 46,703,430 (-)NCBI
Build 36646,780,237 - 46,811,061 (-)NCBI Archive
HuRef646,395,325 - 46,426,641 (-)ENTREZGENE
CHM1_1646,675,466 - 46,706,533 (-)NCBI
T2T-CHM13v2.0646,541,848 - 46,573,020 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249408   ⟹   XP_005249465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38646,704,201 - 46,735,721 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419359   ⟹   XP_047275315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38646,704,201 - 46,735,721 (-)NCBI
RefSeq Acc Id: XM_047419360   ⟹   XP_047275316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38646,708,004 - 46,735,375 (-)NCBI
RefSeq Acc Id: XM_054356419   ⟹   XP_054212394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0646,541,848 - 46,573,478 (-)NCBI
RefSeq Acc Id: XM_054356420   ⟹   XP_054212395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0646,545,657 - 46,573,020 (-)NCBI
RefSeq Acc Id: NP_001161829   ⟸   NM_001168357
- Peptide Label: precursor
- UniProtKB: Q5VTT1 (UniProtKB/Swiss-Prot),   Q15692 (UniProtKB/Swiss-Prot),   A5HTT5 (UniProtKB/Swiss-Prot),   Q8IVA2 (UniProtKB/Swiss-Prot),   Q13093 (UniProtKB/Swiss-Prot),   A8K2W6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005075   ⟸   NM_005084
- Peptide Label: precursor
- UniProtKB: Q5VTT1 (UniProtKB/Swiss-Prot),   Q15692 (UniProtKB/Swiss-Prot),   A5HTT5 (UniProtKB/Swiss-Prot),   Q8IVA2 (UniProtKB/Swiss-Prot),   Q13093 (UniProtKB/Swiss-Prot),   A8K2W6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249465   ⟸   XM_005249408
- Peptide Label: isoform X1
- UniProtKB: Q5VTT1 (UniProtKB/Swiss-Prot),   Q15692 (UniProtKB/Swiss-Prot),   A5HTT5 (UniProtKB/Swiss-Prot),   Q8IVA2 (UniProtKB/Swiss-Prot),   Q13093 (UniProtKB/Swiss-Prot),   A8K2W6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000445666   ⟸   ENST00000537365
Ensembl Acc Id: ENSP00000274793   ⟸   ENST00000274793
RefSeq Acc Id: XP_047275315   ⟸   XM_047419359
- Peptide Label: isoform X3
- UniProtKB: A8K2W6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275316   ⟸   XM_047419360
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054212394   ⟸   XM_054356419
- Peptide Label: isoform X1
- UniProtKB: Q5VTT1 (UniProtKB/Swiss-Prot),   Q15692 (UniProtKB/Swiss-Prot),   Q13093 (UniProtKB/Swiss-Prot),   A5HTT5 (UniProtKB/Swiss-Prot),   Q8IVA2 (UniProtKB/Swiss-Prot),   A8K2W6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212395   ⟸   XM_054356420
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13093-F1-model_v2 AlphaFold Q13093 1-441 view protein structure

Promoters
RGD ID:7208255
Promoter ID:EPDNEW_H9873
Type:single initiation site
Name:PLA2G7_3
Description:phospholipase A2 group VII
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9875  EPDNEW_H9874  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38646,733,543 - 46,733,603EPDNEW
RGD ID:7208259
Promoter ID:EPDNEW_H9874
Type:initiation region
Name:PLA2G7_1
Description:phospholipase A2 group VII
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9873  EPDNEW_H9875  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38646,735,375 - 46,735,435EPDNEW
RGD ID:7208257
Promoter ID:EPDNEW_H9875
Type:initiation region
Name:PLA2G7_2
Description:phospholipase A2 group VII
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9873  EPDNEW_H9874  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38646,735,721 - 46,735,781EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9040 AgrOrtholog
COSMIC PLA2G7 COSMIC
Ensembl Genes ENSG00000146070 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000274793 ENTREZGENE
  ENST00000274793.12 UniProtKB/Swiss-Prot
  ENST00000537365 ENTREZGENE
  ENST00000537365.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000146070 GTEx
HGNC ID HGNC:9040 ENTREZGENE
Human Proteome Map PLA2G7 Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAF_acetylhydro_eukaryote UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7941 UniProtKB/Swiss-Prot
NCBI Gene 7941 ENTREZGENE
OMIM 601690 OMIM
PANTHER PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE UniProtKB/Swiss-Prot
  PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE UniProtKB/TrEMBL
  PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE UniProtKB/TrEMBL
  PTHR10272 UniProtKB/Swiss-Prot
Pfam PAF-AH_p_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33368 PharmGKB
PIRSF PAF_acetylhydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LIPASE_SER UniProtKB/Swiss-Prot
Superfamily-SCOP alpha/beta-Hydrolases UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A5HTT5 ENTREZGENE
  A8K2W6 ENTREZGENE, UniProtKB/TrEMBL
  PAFA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q15692 ENTREZGENE
  Q5VTT1 ENTREZGENE
  Q8IVA2 ENTREZGENE
UniProt Secondary A5HTT5 UniProtKB/Swiss-Prot
  Q15692 UniProtKB/Swiss-Prot
  Q5VTT1 UniProtKB/Swiss-Prot
  Q8IVA2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLA2G7  phospholipase A2 group VII  PLA2G7  phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)  Symbol and/or name change 5135510 APPROVED